FISH, KMT2A (Lysine Methyltransferase 2A) Gene Rearrangement

Test Code

36055

Preferred Specimen

3 mL bone marrow or 5 mL whole blood collected in a sodium heparin (green-top) tube

Minimum Volume

1 mL bone marrow • 3 mL whole blood

Other Acceptable Specimens

Sodium heparin (royal blue-top) tube • Sodium heparin lead-free (tan-top) tube

Instructions

Other vacutainer tubes containing sodium heparin are acceptable

Transport Temperature

Room temperature

Specimen Stability

Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not freeze. Do not reject.

Methodology
Fluorescence in situ Hybridization (FISH)

FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Setup Schedule

Set up: Daily; Report available: 5-7 days

Clinical Significance

The KMT2A (lysine methyltransferase 2A) gene, previously known as the MLL gene, on chromosome 11q23.3 encodes for a histone methyltransferase, which functions as an epigenetic regulator of transcription. KMT2A FISH (fluorescence in situ hybridization) testing is used to detect rearrangements in the KMT2A gene in patients with acute myeloid leukemia (AML) or acute lymphoblastic leukemia (ALL), and in a small subset of patients with myelodysplastic neoplasms (MDS). KMT2A rearrangements in acute leukemia are associated with a poor outcome. However, recent studies have shown that the prognosis is dependent on the fusion partner and cell lineage origin. In addition, both adults and pediatric patients with KMT2A gene rearrangements can now benefit from a recent FDA-approved menin inhibitor therapy, particularly in cases with relapsed and refractory acute leukemia. KMT2A FISH testing is used in conjunction with other clinical and histopathological tests. It is not intended to be used as a stand-alone diagnostic.

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.